Portuguese genetic test helps to treat patients with a drop of saliva

“In a year and a half we built a laboratory panel in which, from a sample of saliva that the person can take at home and send by mail, as it does not degrade at room temperature, in the laboratory we were able to extract the DNA from the cells and go to a series of positions in the genome to seek, in an aggregate way, all the information we need for five therapeutic areas: cardiology, psychiatry, pain management, diabetes and oncology ”, explained Ana Teresa Freitas, from the Portuguese startup HeartGenetics.

Portuguese researchers have developed a genetic test that can help doctors choose the most effective and appropriate drugs for the patient, avoiding adverse effects that may entail expenses with hospitalization and, ultimately, lead to death.

Speaking to the Lusa agency, Ana Teresa Freitas, from the Portuguese startup HeartGenetics, a company that was born at the Instituto Superior Técnico (IST), explains that the test, unique in Europe, assesses 88 genetic variants in 32 genes through a saliva harvest .

"The pharmaceutical industry has a lot of therapeutic failure and spends millions on drugs in Europe that later go to Africa or Asia and fail in effectiveness," he said, stressing that both the effectiveness of the drug and the possible adverse effects depend on the genetic characteristics of each person.

Ana Teresa Freitas, a professor at IST, explains that a drug is designed "to grab a certain protein" and that, "if that protein is altered, there is therapeutic failure", that is, the medication loses effectiveness.

The specialist points out that people can react differently to drugs, for several reasons: “if the metabolism is very fast, the body expels quickly and there is little effect [of the drug] and if it is slow it can have toxicity. Just as, for example, each person's genes can make you gain weight with a certain medication, or have skin reactions ”.

“It is for all of this that some drugs are more effective in some people than in others”, he says.

Speaking to Lusa, he said that regulatory agencies have been developing drug to drug 'guidelines' over the years, indicating that those who have certain characteristics in the genome may or may not take certain drugs, but says that this information exists in a “very dispersed” way .

“In a year and a half we built a laboratory panel in which, from a sample of saliva that the person can take at home and send by mail, as it does not degrade at room temperature, in the laboratory we were able to extract the DNA from the cells and go to a series of positions in the genome to seek, in an aggregate way, all the information we need for five therapeutic areas: cardiology, psychiatry, pain management, diabetes and oncology ”, he explained.

In order to transform all this information into something that everyone could understand, software was developed that, with the information collected, produces a report that is easy to interpret for each person.

“It is like a color code in which everyone knows, depending on the color, whether or not they can take a certain medication. All of this is associated with a mobile application, so that the person always has the information with him and can share it with his doctor ”, explained the researcher, adding that, in this way, it is possible to better manage the therapy.

The specialist in human genetics and computational biology stresses that the test is done “only once” and accompanies the person for life, stressing that the information is “very relevant especially for polymedicated patients [who take several medications]”: “ It helps to understand if there are medications that can interfere with what the person is already taking. Dosages can even be adjusted ”.

The team has already prepared a proposal to have the test in five hospitals (private and public) and says that the process was only delayed "because of the pandemic".

Ana Teresa Freitas also gives an example of the importance that the test has in the field of psychiatry: “From the genome, we know that 28% of the Portuguese population will experience therapeutic failure in first-line therapies. That is why medication is often changed in treatments in this area ”.

According to the most recent data made available by Infarmed, in 2019, the national drug authority received more than 10.600 notifications of adverse drug reactions, the majority (62,7%) of which were considered serious.

According to Infarmed's “Pharmacovigilance in Portugal 25+” report, more than 197.000 people die each year in the European Union due to adverse drug reactions.

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